hand malformation

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Open Journal of Orthopedics, 2014, 4, 157-160

Published Online June 2014 in SciRes.http://www.scirp.org/journal/ojo

http://dx.doi.org/10.4236/ojo.2014.46026

How to cite this paper: Shetty, S.H., Khedekar, R.G., Parikh, M. and Shetty, N. (2014) A Rare and Severe Case of

Split-Hand/Foot Malformation in a Child in India. Open Journal of Orthopedics, 4, 157-160.

http://dx.doi.org/10.4236/ojo.2014.46026

A Rare and Severe Case of Split-Hand/FootMalformation in a Child in India

Sunil H. Shetty, Ravindra G. Khedekar, Mishil Parikh, Nikita Shetty

Hospital & Research Center, Pad. Dr. D. Y. Patil Medical College, Navi Mumbai, India

Email:[email protected]

Received 19 April 2014; revised 31 May 2014; accepted 17 June 2014

Copyright 2014 by authors and Scientific Research Publishing Inc.This work is licensed under the Creative Commons Attribution International License (CC BY).

http://creativecommons.org/licenses/by/4.0/

Abstract

Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition cha-racterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is

with the absence of one or more median rays or digits creating cone shaped clefts of the hands

and/or feet. The present case of severe bilateral split-hand and foot malformations was presentedin an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays

of the autopod in which each of the hands and each foot is divided into two parts by a coned shape

cleft tapering proximally, resembling a lobster claw. SHFM is often associated with other limbanomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges,

metacarpals, and metatarsals. Most cases are sporadic; however familial forms do exist with pre-

dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form

of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associatedwith anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss.

Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recom-

mended against surgical reconstruction, due to lack of evidence of functional disability.

Keywords

Congenital Limb Deformities, Split-Hand/Split-Foot Malformation, Ectrodactyly

1. Introduction

Split-hand/foot malformation (SHFM) is a primary structural rare abnormality of the limbs. SHFM or Ectrodac-

tyly is characterized by the absence of one or more median rays or digits creating cone shaped clefts of the

hands and/or feet. It is often associated with other limb anomalies including monodactyly, syndactyly and apla-

sia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.
http://www.scirp.org/journal/ojohttp://www.scirp.org/journal/ojohttp://www.scirp.org/journal/ojohttp://dx.doi.org/10.4236/ojo.2014.46026http://dx.doi.org/10.4236/ojo.2014.46026http://dx.doi.org/10.4236/ojo.2014.46026http://dx.doi.org/10.4236/ojo.2014.46026mailto:[email protected]:[email protected]:[email protected]://creativecommons.org/licenses/by/4.0/http://creativecommons.org/licenses/by/4.0/http://creativecommons.org/licenses/by/4.0/mailto:[email protected]://www.scirp.org/http://dx.doi.org/10.4236/ojo.2014.46026http://dx.doi.org/10.4236/ojo.2014.46026http://www.scirp.org/journal/ojo


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Ectrodactyly is an uncommon inborn malformation of the hand where the intermediate digit is missing, and

the hand is cleft where the metacarpal of the finger should be. This schism gives the hands the show of lobster

claws. Ectrodactyly is also known as Karsch Neugebauer syndrome. It has been called lobster-claw syndrome

because the hands of those affected can appear claw-like. This rare syndrome has many forms (Table 1); one of

the most common of these forms called Type I is associated with a specific region of human chromosome 7 that

contains two homeobox genes, DLX5 and DLX6. These genes are similar to a gene in insects called distal-lessthat controls limb development. When this gene is defective in the fruit fly the distal part of the insect limb is

missing. Ectrodactyly may be present alone, or may be part of a number of birth defects. Hand deformation

alone is unlikely to affect health.

We report herein a case of severe SHFM involving all four limbs.

2. Case Report

An 8-year-old girl presented with severe bilateral split-hand and foot malformations since birth (Figure 1).

Physical examination revealed absence of multiple metatarsals and phalanges with a cone shaped cleft tapering

proximally in both the feet and in both the hands. There were no other medical conditions or dysmorphic fea-

tures. The girl was an only child, born out of a non-consanguineous marriage. The Parents are non-syndromic

with no family history of limb malformations. The parents brought their daughter to the medical center for con-

sultation regarding options for treating what they perceived as a cosmetic deformity. Examination showed no

functional disability thus surgery was not recommended.

3. Discussion

Ectrodactyly, also termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized

by defects of the central elements of the autopod (hand/foot). It has a prevalence of 1:10,000 - 1:90,000 world-

wide.

The presented case of severe bilateral SHFM involves the complete absence of the central rays of the autopod

Table 1.Classification for cleft hand described by Manske and Halikis.

Type Description Characteristics

I Normal web Thumb web space not narrowed

IIA Mildly narrowed web Thumb web space mildly narrowed

IIB Severely narrowed web Thumb web space severely narrowed

III Syndactylized web Thumb and index rays syndactylized, web space obliterated

IV Merged web Index ray suppressed, thumb web space is merged with the cleft

V Absent web Thumb elements suppressed, ulnar rays remain, thumb web space no longer present

Figure 1. Showing the lobster claws and feet in a Child.


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Table 2.Treatment based on the classification of Manske and Halikis.

Type Treatment

I/IIA Reconstruction of the transverse metacarpal ligament

IIB/III Transposition of the index metacarpal with reconstruction of the thumb webspace

IV Mobility and/or position of the thumb of ulnar digit to promote pinch and grasp

V There is no cleft or web space and the thumb is very deficient. This hand requires consideration of creating a radial digit

in which each of the hands and each foot is divided into 2 parts by a coned shape cleft tapering proximally, re-

sembling a lobster claw[1].The severity may vary between patients as well as between different limbs of the

same individual.

Most cases of SHFM are sporadic as in this case report, however familial forms do exist with predominantly

autosomal dominant inheritance. Autosomal-recessive and X-linked forms are rare while some cases of SHFM

are due to chromosome deletions and duplications[2].

The main pathogenic mechanism for ectrodactyly development is due to a failure to maintain median apical

ectodermal ridge (AER) signaling, either through increased cell death, or through reduced cell proliferation. This

AER activity defect does not occur in the very earliest stages of limb development, since that would result in

more severe limb malformations that are not limited to the autopod[2].The syndromic form of SHFM expressed in some patients is associated with anomalies asintellectual disabili-

ty in 33%, ectodermal and craniofacial findings in >35% and orofacial clefting, and neurosensory hearing loss

in >35%[3].

The malformation, when non-syndromic can be expressed with isolated involvement of the limbs, as pre-

sented in this case. Usually cases of isolated ectrodactyly do not require surgical intervention, as we also rec-

ommended against surgical reconstruction, which should be considered only in cases with functional disability.

Most individuals adapt well and live normal lives with modest functional impairment of the hands.Thus func-

tional training and physical therapy are advised.

4. Conclusions

The diagnosis of ectrodactyly syndrome can be complex because of the overlap of symptoms with other ecto-

dermal dysplasia syndromes. Currently there are several treatments, which can normalize the appearance of thehands, yet they will not function precisely the same way as regularly formed hands. The prognosis for most in-

dividuals with ectrodactyly syndrome is very good. Some people with ectrodactyly use prosthetic hands to avoid

the rude stares of others. Ectrodactyly is an inherited circumstance which can be treated surgically to better role

and show. Early physical and occupational therapy can help those with ectrodactyly adapt, and learn to write,

pick things up, and be fully functional. Genetic findings could have great implications in clinical diagnosis and

treatment of not only ectrodactyly, but also many other related syndromes.

Surgical treatment of the cleft hand is based on several indications:

Improving functionAbsent thumb, Deforming syndactyly (mostly between digits of unequal length like in-

dex and thumb), Transverse bones (this will progress the deformity, growth of these bones will widen the cleft),

Narrowed first webspace and Esthetical aspectsreducing deformity.

When surgery is indicated, the choice of treatment is based on the classification.Table 2shows the treatment

of cleft hand divided into the classification of Manske and Halikis. Techniques described by Ueba, Miura andKomada and the procedure of Snow-Littler are guidelines, since clinical and anatomical presentation within the

types differ, the actual treatment is based on the individual abnormality[4].

References

[1] #183600 Split-hand/foot malformation 1; SHFM1, Online Mendelian Inheritance in Man (OMIM) Catalog of HumanGenes and Genetic Disorders.http://omim.org/entry/183600

[2]

Duijf, P., van Bokhoven, H. and Brunner, H.G. (2003) Pathogenesis of Split-Hand/Split-Foot Malformation. HumanMolecular Genetics, 12, R51-R60.http://dx.doi.org/10.1093/hmg/ddg090

[3] Lango Allen, H., Caswell, R., Xie, W., Xu, X., Wragg, C., Turnpenny, P.D., Turner, C.L., Weedon, M.N. and Ellard, S.(2014) Next Generation Sequencing of Chromosomal Rearrangements in Patients with Split-Hand/Split-Foot Malfor-
http://omim.org/entry/183600http://omim.org/entry/183600http://omim.org/entry/183600http://dx.doi.org/10.1093/hmg/ddg090http://dx.doi.org/10.1093/hmg/ddg090http://dx.doi.org/10.1093/hmg/ddg090http://dx.doi.org/10.1093/hmg/ddg090http://omim.org/entry/183600


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mation Provides Evidence forDYNC1I1Exonic Enhancers ofDLX5/6Expression in Humans.Journal of Medical Ge-netics, 51, 264-267.http://dx.doi.org/10.1136/jmedgenet-2013-102142

[4] Manske, P.R. and Halikis, M.N. (1995) Surgical Classification of Central Deficiency According to the Thumb Web.Journal of Hand Surgery, 20, 687-697.http://dx.doi.org/10.1016/S0363-5023(05)80293-X
http://dx.doi.org/10.1136/jmedgenet-2013-102142http://dx.doi.org/10.1136/jmedgenet-2013-102142http://dx.doi.org/10.1136/jmedgenet-2013-102142http://dx.doi.org/10.1016/S0363-5023(05)80293-Xhttp://dx.doi.org/10.1016/S0363-5023(05)80293-Xhttp://dx.doi.org/10.1016/S0363-5023(05)80293-Xhttp://dx.doi.org/10.1016/S0363-5023(05)80293-Xhttp://dx.doi.org/10.1136/jmedgenet-2013-102142


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